英文全文引文： 由竞争对手发表人类基因组细节而引发的争论
[全文引自BMJ 2001;322,Feb.17:381.]
（序列资料以及评论和分析可在www.nature.com/genomics/human 和 www.sciencemag.org/genome网址上查阅）
The two groups that are sequencing the human genome published full
sequence and mapping details of their first drafts this week, an event
marked by acrimonious fighting between the rival scientists involved.
The Human Genome Pro-ject, an international collabora-tion between eight
publicly funded university centres, pub-lished its sequence data in
the journal Nature. Its data have been posted daily on the inter-net
since the project began and are freely available. The project estimates
that in the past two months researchers in the devel-oping world have
accessed its genome database over 300 000 times. In contrast, the commercial
enterprise Celera Genomics, which published its data in the journal
Science, only allows paid subscribers to access its data. Science took
the unprecedented step of agreeing to impose some restrictions on the
use of the published Celera data. The Human Genome Project, angered
by the way that these restrictions discriminate against scientists in
poor countries, claimed that Celera had attracted fewer than 50 paying
customers. “Others want to charge the rest of the human race a fortune,
but we are here to tell them that the human genome is not for sale,”
said Sir John Sulston, for-mer director of the Sanger Centre in Cambridge,
which sequenced a third of the public project’s genome. “Our international
publicly owned data,” he said, “are bene-fiting local communities.”
The sequence data, he explained, are being used by scientists in the
developing world to study genetic variations in usceptibil-ity to common
fatal diseases, such as diarrhoea, malaria, and AIDS. Craig Venter,
Celera’s founder, dismissed the accusa-tions of rofiteering as “a minor
squabble between scientists,” and Barbara Jasny and Donald Kennedy,
the editors of Science, said that the rivalry “detracts from the awesome
accomplish-ment jointly unveiled this week.” But while the Science editors
talked of “a marriage between public funding and private entrepreneurship,”
the public project claimed that the rela-tionship was far from equal,
and that Celera’s shotgun method for assembling sequence data relied
on the public genome database. Richard Durbin, the deputy director and
head of bioinformatics at the Sanger Centre, said: “They [Celera] have
relied very heavily on the work we put in to put together our sequence.
The message at the end is that, although they have added some new material,
overall the results are remarkably comparable.” Despite the different
sequencing techniques used by the two groups, both agreed that the human
genome con-tains far fewer genes than was originally estimated when
their first working drafts were announced last year (BMJ 2000;321:7).
The drafts suggested that there might be up to 115 000 genes, but the
final number is between 30000 and 40 000, making the human genome only
twice as large as that of the fruit fly. The surprisingly small size
of the genome led to widespread media speculation that our envi-ronment
must influence our development more than our genes do. But both groups
rejected this notion, pointing out that our genes must interact in a
myriad ways to drive human complexity, variation, and disease. “The
notion that one gene equals one disease,” said Dr Venter, “or that one
gene pro-duces one key protein, is flying out the window.” Another key
finding is that humans share many of their genes with simple organisms—half
with nematodes and a fifth with yeast. Michael Dexter, director of the
Wellcome Trust, which has committed ￡210m ($315m) to the public project,
believes that this confirms Dar-win’s theory of evolution. “It’s great
to be getting the molecular correlates of what Darwin hypothesised 150
years ago,” he said. More than a third of the genome contains repetitive
DNA sequences (“junk DNA”), much more than in any other genome sequenced
to date. Scientists now believe that far from being useless, these DNA
repeats have been crucial to the evolution of the human genome, mediating
the crea-tion of new genes. “The junk in the genome,” said Richard Gallagher,
Nature’s chief biology editor, “offers a window into our history. There
are a huge number of stories to be uncovered.” Publication of the human
genome ushers in a new era of post-genomic science, in which researchers
will use the data to try to understand the causes of diseases and to
develop new treatments. A paper published in Nature, for example, suggests
that the draft sequence will help us to understand the biology of drug
addiction by enabling us to identify “addiction vulnerability genes”
(Nature 2001;409:834-5). Other papers point to how the sequence data
could provide new treatments for sleep disor-ders and jet lag.
